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Refsum’s病又称遗传性共济失调性多神经炎,1946年首先由Refsum报告,属常染色体隐性遗传.1963年K1enk和Kahlke发现这种病人血清植烷酸含量增高.至今国外文献记载约60余例,国内仅见1例报告. 黄某某,男,29岁,已婚.视力逐渐下降20余年,反复四肢发麻、活动困难10年,于1985年5月13日入院.1964年发生“夜盲症”,1968年上小学还能看清黑板上的字,某医院诊断“视网膜变性,视神经萎缩”.1978年已完全失明.
Refsum’s disease, also known as genetic ataxia polyneuritis, first reported by Refsum in 1946, is autosomal recessive in 1963 K1enk and Kahlke found that patients with elevated serum phytanic acid content so far abroad, about 60 The remaining cases, only one case of domestic report.Huang Moumou, male, 29 years old, married .Visual decline gradually for more than 20 years, repeated limbs numbness, activity for 10 years, was admitted to hospital on May 13, 1985. 1964 occurred “ Night blindness ”, in 1968 elementary school can see the words on the blackboard, a hospital diagnosis of“ retinal degeneration, optic atrophy. ”1978 has been completely blind.